Varaico: Literature-Extracted Genetic Variants

TLN1

235 papers

RefSeq Summary

This gene encodes a cytoskeletal protein that is concentrated in areas of cell-substratum and cell-cell contacts. The encoded protein plays a significant role in the assembly of actin filaments and in...

Pfam Domains

FERM_f0aa 4–83UCSCN-terminal or F0 domain of Talin-head FERM

FERM_Maa 201–313UCSCFERM central domain

IRSaa 313–400UCSCPTB domain (IRS-1 type)

Talin_middleaa 491–652UCSCTalin, middle domain

Talin_IBS2Baa 649–757UCSCTalin IBS2B domain

Talin_VBS2aa 794–909UCSCTalin VBS2 domain

Gene Aliases

HGNC Name

talin 1

HGNC Alias Symbol

ILWEQ

Papers

RefSeq ID

Protein change

DNA change

1–12 of 235 variants

5 papers

NM_006289.4

p.L325R

c.974T>G

5 papers

NM_006289.4

p.S1227L

c.3680C>T

4 papers

NM_006289.4

p.R33H

c.98G>A

4 papers

NM_006289.4

p.E384K

c.1150G>A

4 papers

NM_006289.4

p.V2444D

c.7331T>A

4 papers

NM_006289.4

p.R2526G

c.7576C>G

3 papers

NM_006289.4

p.P229S

c.685C>T

3 papers

NM_006289.4

p.T585M

c.1754C>T

3 papers

NM_006289.4

p.L684V

c.2050C>G

3 papers

NM_006289.4

p.R1241W

c.3721C>T

3 papers

NM_006289.4

p.A2013T

c.6037G>A

3 papers

NM_006289.4

p.V2087A

c.6260T>C